Key result
The genetic variant rs9262636 on chromosome 6p21 was significantly associated with dilated cardiomyopathy (P = 4.90 × 10^-9), highlighting the role of inflammatory processes in its pathogenesis.
Case-Control (n=11,700)
p-value: p=4.90 × 10(-9)
Identified a novel genetic susceptibility locus on chromosome 6p21 for dilated cardiomyopathy, highlighting the role of genetically driven inflammatory processes.
Should not yet change dilated cardiomyopathy management; leaves open whether this inflammatory locus informs risk stratification or targeted therapies.
AIMS: Dilated cardiomyopathy (DCM) is one of the leading causes for cardiac transplantations and accounts for up to one-third of all heart failure cases. Since extrinsic and monogenic causes explain only a fraction of all cases, common genetic variants are suspected to contribute to the pathogenesis of DCM, its age of onset, and clinical progression. By a large-scale case-control genome-wide association study we aimed here to identify novel genetic risk loci for DCM. METHODS AND RESULTS: Applying a three-staged study design, we analysed more than 4100 DCM cases and 7600 controls. We identified and successfully replicated multiple single nucleotide polymorphism on chromosome 6p21. In the combined analysis, the most significant association signal was obtained for rs9262636 (P = 4.90 × 10(-9)) located in HCG22, which could again be replicated in an independent cohort. Taking advantage of expression quantitative trait loci (eQTL) as molecular phenotypes, we identified rs9262636 as an eQTL for several closely located genes encoding class I and class II major histocompatibility complex heavy chain receptors. CONCLUSION: The present study reveals a novel genetic susceptibility locus that clearly underlines the role of genetically driven, inflammatory processes in the pathogenesis of idiopathic DCM.
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Meder et al. (2013) conducted a case-control in Dilated cardiomyopathy (n=11,700). Genetic variant rs9262636 on chromosome 6p21 vs. Controls without dilated cardiomyopathy was evaluated on Association with dilated cardiomyopathy (p=4.90 × 10(-9)). The genetic variant rs9262636 on chromosome 6p21 was significantly associated with dilated cardiomyopathy (P = 4.90 × 10^-9), highlighting the role of inflammatory processes in its pathogenesis.
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